Hypohidrotic ectodermal dysplasia
ORPHA:238468DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)11
HP:0000164Abnormality of the dentition
HP:0000327Hypoplasia of the maxilla
HP:0000958Dry skin
HP:0000963Thin skin
HP:0001097Keratoconjunctivitis sicca
HP:0001999Abnormal facial shape
HP:0006482Abnormal dental morphology
HP:0007400Irregular hyperpigmentation
HP:0009804Tooth agenesis
HP:0010978Abnormality of immune system physiology
HP:0012471Thick vermilion border
Частый (30–79%)15
HP:0000100Nephrotic syndrome
HP:0000217Xerostomia
HP:0000246Sinusitis
HP:0000463Anteverted nares
HP:0000962Hyperkeratosis
HP:0000964Eczematoid dermatitis
HP:0000966Hypohidrosis
HP:0002007Frontal bossing
HP:0002217Slow-growing hair
HP:0004298Abnormality of the abdominal wall
HP:0009886Trichorrhexis nodosa
HP:0011358Generalized hypopigmentation of hair
HP:0012735Cough
HP:0100533Inflammatory abnormality of the eye
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)5
HP:0001508Failure to thrive
HP:0001597Abnormality of the nail
HP:0011362Abnormal hair quantity
HP:0100543Cognitive impairment
HP:0100783Breast aplasia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 6.7 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)